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Aliases for R3HDM4 Gene

Aliases for R3HDM4 Gene

  • R3H Domain Containing 4 2 3 5
  • C19orf22 3 4
  • R3H Domain-Containing Protein C19orf22 3
  • Chromosome 19 Open Reading Frame 22 2
  • R3H Domain-Containing Protein 4 3

External Ids for R3HDM4 Gene

Previous HGNC Symbols for R3HDM4 Gene

  • C19orf22

Summaries for R3HDM4 Gene

GeneCards Summary for R3HDM4 Gene

R3HDM4 (R3H Domain Containing 4) is a Protein Coding gene. Gene Ontology (GO) annotations related to this gene include nucleic acid binding.

Additional gene information for R3HDM4 Gene

No data available for Entrez Gene Summary , CIViC summary , UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for R3HDM4 Gene

Genomics for R3HDM4 Gene

GeneHancer (GH) Regulatory Elements for R3HDM4 Gene

Promoters and enhancers for R3HDM4 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH19I000911 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE dbSUPER 550.8 +0.4 364 2.2 HDAC1 ELF3 HDGF SMAD1 ZNF76 EGR1 CREM SP3 SMAD5 ZBTB2 R3HDM4 RNU6-9
GH19I000906 Enhancer 1.8 FANTOM5 Ensembl ENCODE dbSUPER 17.6 +4.7 4687 4.7 HDGF PKNOX1 SMAD1 FOXA2 MLX ARNT ARID4B SIN3A DMAP1 ZBTB7B ARHGAP45 R3HDM4 MIDN ABCA7 CFD ELANE PRTN3 GZMM DAZAP1 SBNO2
GH19I001236 Promoter/Enhancer 2.7 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 10.8 -343.6 -343614 41.1 CLOCK MLX ZFP64 DMAP1 IRF4 YY1 SLC30A9 ZNF213 E2F8 ZNF416 CIRBP C19orf24 MIDN CBARP ATP5F1D SF3A2 TCF3 TMEM259 LOC100288123 PTBP1
GH19I001025 Promoter/Enhancer 2.6 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 7.2 -115.1 -115135 5.8 PKNOX1 FOXA2 ARNT ARID4B SIN3A DMAP1 POLR2B ZNF143 SP3 NFYC CNN2 ABCA7 ARHGAP45 GRIN3B SBNO2 GZMM R3HDM4 RNU6-2 MIDN RNF126
GH19I001064 Promoter/Enhancer 2.4 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 7.3 -153.9 -153913 6 HDGF MLX ZFP64 ARID4B SIN3A DMAP1 ZNF2 ZNF143 ZNF263 SP3 ARHGAP45 ABCA7 DAZAP1 POLR2E SBNO2 MIER2 MIDN R3HDM4 CIRBP TMEM259
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around R3HDM4 on UCSC Golden Path with GeneCards custom track

Genomic Locations for R3HDM4 Gene

Genomic Locations for R3HDM4 Gene
chr19:896,503-913,245
(GRCh38/hg38)
Size:
16,743 bases
Orientation:
Minus strand
chr19:896,503-913,240
(GRCh37/hg19)

Genomic View for R3HDM4 Gene

Genes around R3HDM4 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
R3HDM4 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for R3HDM4 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for R3HDM4 Gene

Proteins for R3HDM4 Gene

  • Protein details for R3HDM4 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q96D70-R3HD4_HUMAN
    Recommended name:
    R3H domain-containing protein 4
    Protein Accession:
    Q96D70

    Protein attributes for R3HDM4 Gene

    Size:
    268 amino acids
    Molecular mass:
    30350 Da
    Quaternary structure:
    No Data Available

neXtProt entry for R3HDM4 Gene

Post-translational modifications for R3HDM4 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for R3HDM4 Gene

No data available for DME Specific Peptides for R3HDM4 Gene

Domains & Families for R3HDM4 Gene

Gene Families for R3HDM4 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for R3HDM4 Gene

Suggested Antigen Peptide Sequences for R3HDM4 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with R3HDM4: view

No data available for UniProtKB/Swiss-Prot for R3HDM4 Gene

Function for R3HDM4 Gene

Phenotypes From GWAS Catalog for R3HDM4 Gene

Gene Ontology (GO) - Molecular Function for R3HDM4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003676 nucleic acid binding IEA --
genes like me logo Genes that share ontologies with R3HDM4: view

Phenotypes for R3HDM4 Gene

genes like me logo Genes that share phenotypes with R3HDM4: view

Animal Model Products

miRNA for R3HDM4 Gene

miRTarBase miRNAs that target R3HDM4

Clone Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for R3HDM4 Gene

Localization for R3HDM4 Gene

Subcellular locations from UniProtKB/Swiss-Prot for R3HDM4 Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for R3HDM4 gene
Compartment Confidence
nucleus 5
cytosol 3

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
  • Nucleus (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for R3HDM4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
genes like me logo Genes that share ontologies with R3HDM4: view

Pathways & Interactions for R3HDM4 Gene

SuperPathways for R3HDM4 Gene

No Data Available

Interacting Proteins for R3HDM4 Gene

Selected Interacting proteins: Q96D70-R3HD4_HUMAN for R3HDM4 Gene via IID

Symbol External ID(s) Details
ADIPOR1
UBC

Gene Ontology (GO) - Biological Process for R3HDM4 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for R3HDM4 Gene

Drugs & Compounds for R3HDM4 Gene

No Compound Related Data Available

Transcripts for R3HDM4 Gene

Unigene Clusters for R3HDM4 Gene

R3H domain containing 4:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for R3HDM4 Gene

ExUns: 1a · 1b · 1c ^ 2 ^ 3 ^ 4a · 4b ^ 5 ^ 6a · 6b ^ 7a · 7b ^ 8a · 8b ^ 9 ^ 10a · 10b
SP1: - - -
SP2: - - - -
SP3: - - - -
SP4: -
SP5:
SP6: -
SP7:

Relevant External Links for R3HDM4 Gene

GeneLoc Exon Structure for
R3HDM4
ECgene alternative splicing isoforms for
R3HDM4

Expression for R3HDM4 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for R3HDM4 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for R3HDM4 Gene

This gene is overexpressed in Whole Blood (x23.6).

Protein differential expression in normal tissues from HIPED for R3HDM4 Gene

This gene is overexpressed in Lung (63.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for R3HDM4 Gene



Protein tissue co-expression partners for R3HDM4 Gene

NURSA nuclear receptor signaling pathways regulating expression of R3HDM4 Gene:

R3HDM4

SOURCE GeneReport for Unigene cluster for R3HDM4 Gene:

Hs.557655

Evidence on tissue expression from TISSUES for R3HDM4 Gene

  • Skin(4.7)
  • Eye(4.4)
  • Nervous system(2.9)
genes like me logo Genes that share expression patterns with R3HDM4: view

No data available for mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for R3HDM4 Gene

Orthologs for R3HDM4 Gene

This gene was present in the common ancestor of chordates.

Orthologs for R3HDM4 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia R3HDM4 33 34
  • 99.63 (n)
cow
(Bos Taurus)
Mammalia R3HDM4 33 34
  • 89.81 (n)
dog
(Canis familiaris)
Mammalia R3HDM4 33 34
  • 89.05 (n)
rat
(Rattus norvegicus)
Mammalia R3hdm4 33
  • 82 (n)
mouse
(Mus musculus)
Mammalia R3hdm4 33 16 34
  • 81.17 (n)
oppossum
(Monodelphis domestica)
Mammalia R3HDM4 34
  • 67 (a)
OneToOne
chicken
(Gallus gallus)
Aves R3HDM4 33 34
  • 71.58 (n)
tropical clawed frog
(Silurana tropicalis)
Amphibia r3hdm4 33
  • 62.4 (n)
zebrafish
(Danio rerio)
Actinopterygii r3hdm4 33 34
  • 58.4 (n)
Species where no ortholog for R3HDM4 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for R3HDM4 Gene

ENSEMBL:
Gene Tree for R3HDM4 (if available)
TreeFam:
Gene Tree for R3HDM4 (if available)

Paralogs for R3HDM4 Gene

No data available for Paralogs for R3HDM4 Gene

Variants for R3HDM4 Gene

Sequence variations from dbSNP and Humsavar for R3HDM4 Gene

SNP ID Clin Chr 19 pos Variation AA Info Type
rs1000006737 -- 906,368(-) C/T intron_variant
rs1000410056 -- 902,636(-) A/C intron_variant
rs1000417558 -- 898,466(-) G/C intron_variant
rs1000694695 -- 901,642(-) T/C intron_variant
rs1000752701 -- 897,629(-) T/C intron_variant

Structural Variations from Database of Genomic Variants (DGV) for R3HDM4 Gene

Variant ID Type Subtype PubMed ID
dgv134n111 CNV deletion 26073780
esv2665746 CNV deletion 23128226
nsv1112732 CNV deletion 24896259
nsv1160555 CNV deletion 26073780
nsv470101 CNV loss 18288195
nsv953938 CNV deletion 24416366
nsv9662 CNV gain 18304495

Variation tolerance for R3HDM4 Gene

Residual Variation Intolerance Score: 43.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.90; 74.28% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for R3HDM4 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
R3HDM4

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for R3HDM4 Gene

Disorders for R3HDM4 Gene

Additional Disease Information for R3HDM4

No disorders were found for R3HDM4 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for R3HDM4 Gene

Publications for R3HDM4 Gene

  1. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 58
  2. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PMID: 12477932) Strausberg RL … Mammalian Gene Collection Program Team (Proceedings of the National Academy of Sciences of the United States of America 2002) 2 3 58
  3. Why do cellular proteins linked to K63-polyubiquitin chains not associate with proteasomes? (PMID: 23314748) Nathan JA … Goldberg AL (The EMBO journal 2013) 3 58
  4. N-terminal acetylome analyses and functional insights of the N-terminal acetyltransferase NatB. (PMID: 22814378) Van Damme P … Aldabe R (Proceedings of the National Academy of Sciences of the United States of America 2012) 4 58

Products for R3HDM4 Gene

Sources for R3HDM4 Gene

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